ParkinsonCanadaV1, Main, Exploration, bibRecord, 002E71

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Identifieur interne : 002E71 ( Main/Exploration ); précédent : 002E70; suivant : 002E72

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Auteurs : Ronald B. Postuma [Canada, États-Unis] ; Yoshiaki Furukawa [Canada, États-Unis] ; Ekaterina Rogaeva [Canada, États-Unis] ; Peter H. St. George-Hyslop [Canada, États-Unis] ; Matt J. Farrer [Canada, États-Unis] ; Anthony E. Lang [Canada, États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2003-09.

RBID : ISTEX:DF90C100AC951C0054105B5235E7F6E7F2E14804

English descriptors

KwdEn :
- GTP cyclohydrolase 1, dopa‐responsive dystonia, parkin, parkinsonism, resting leg tremor.

Abstract

We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society

Url:

https://api-v5.istex.fr/document/DF90C100AC951C0054105B5235E7F6E7F2E14804/fulltext/pdf

DOI: 10.1002/mds.10478

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: 000E30
to stream Istex, to step Curation: 000E30
to stream Istex, to step Checkpoint: 000E74
to stream Main, to step Merge: 003269
to stream Main, to step Curation: 002E71

Le document en format XML

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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri